| Title : Cholesterol ester storage disease with unusual neurological manifestations in two siblings: a report from South India - Bindu_2007_J.Child.Neurol_22_1401 |
| Author(s) : Bindu PS , Taly AB , Christopher R , BharatKumar PV , Panda S , Netravathi M , Ravishankar S , Mahadevan A , Yasha TC , Gayathri N |
| Ref : Journal of Child Neurology , 22 :1401 , 2007 |
|
Abstract :
Cholesterol ester storage disease is a rare autosomal recessive storage disorder resulting from lysosomal acid lipase deficiency. Two siblings manifested with hepatosplenomegaly, ptosis, and bilateral external ophthalmoplegia. Evaluation revealed hyperlipidemia and bilateral adrenal calcifications. Leukocyte acid lipase levels were significantly low in both the patients, compared with controls, suggesting a diagnosis of cholesterol ester storage disease. Ptosis and external ophthalmoplegia have hitherto not been reported in cholesterol ester storage disease. |
| PubMedSearch : Bindu_2007_J.Child.Neurol_22_1401 |
| PubMedID: 18174560 |
Bindu PS, Taly AB, Christopher R, BharatKumar PV, Panda S, Netravathi M, Ravishankar S, Mahadevan A, Yasha TC, Gayathri N (2007)
Cholesterol ester storage disease with unusual neurological manifestations in two siblings: a report from South India
Journal of Child Neurology
22 :1401
Bindu PS, Taly AB, Christopher R, BharatKumar PV, Panda S, Netravathi M, Ravishankar S, Mahadevan A, Yasha TC, Gayathri N (2007)
Journal of Child Neurology
22 :1401